chrom large_stringclasses 5
values | pos int64 286k 308M | ref large_stringclasses 4
values | alt large_stringclasses 4
values | AC int64 4 2.3k | AN int64 2.45k 2.45k | AF float64 0 0.94 | MAF float64 0 0.5 | consequence large_stringclasses 11
values | original_consequence large_stringclasses 18
values |
|---|---|---|---|---|---|---|---|---|---|
1 | 10,907,975 | G | C | 10 | 2,448 | 0.004085 | 0.004085 | missense_variant | missense_variant |
1 | 11,066,840 | A | G | 6 | 2,448 | 0.002451 | 0.002451 | intergenic_variant | intergenic_variant |
1 | 11,197,769 | C | T | 16 | 2,448 | 0.006536 | 0.006536 | grouped_start_stop | stop_gained |
1 | 11,480,949 | C | G | 266 | 2,448 | 0.10866 | 0.10866 | grouped_start_stop | stop_gained |
1 | 11,968,894 | C | T | 50 | 2,448 | 0.020425 | 0.020425 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant |
1 | 11,968,973 | C | T | 130 | 2,448 | 0.053105 | 0.053105 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant |
1 | 11,969,935 | T | A | 112 | 2,448 | 0.045752 | 0.045752 | grouped_start_stop | stop_gained |
1 | 11,970,071 | C | A | 828 | 2,448 | 0.338235 | 0.338235 | grouped_start_stop | start_lost |
1 | 12,075,672 | C | G | 382 | 2,448 | 0.156046 | 0.156046 | 5_prime_UTR_variant | 5_prime_UTR_variant |
1 | 12,253,613 | G | A | 604 | 2,448 | 0.246732 | 0.246732 | grouped_splice_region | splice_region_variant |
1 | 12,255,317 | T | C | 4 | 2,448 | 0.001634 | 0.001634 | 5_prime_UTR_variant | 5_prime_UTR_variant |
1 | 12,260,782 | C | A | 126 | 2,448 | 0.051471 | 0.051471 | synonymous_variant | synonymous_variant |
1 | 12,265,992 | G | T | 180 | 2,448 | 0.073529 | 0.073529 | intron_variant | intron_variant |
1 | 12,333,448 | A | G | 24 | 2,448 | 0.009804 | 0.009804 | intergenic_variant | intergenic_variant |
1 | 12,342,584 | G | C | 4 | 2,448 | 0.001634 | 0.001634 | downstream_gene_variant | downstream_gene_variant |
1 | 12,423,337 | G | A | 862 | 2,448 | 0.352124 | 0.352124 | intron_variant | intron_variant |
1 | 12,446,357 | C | A | 4 | 2,448 | 0.001634 | 0.001634 | intron_variant | intron_variant |
1 | 12,517,592 | C | A | 270 | 2,448 | 0.110294 | 0.110294 | 3_prime_UTR_variant | 3_prime_UTR_variant |
1 | 12,553,661 | G | A | 50 | 2,448 | 0.020425 | 0.020425 | upstream_gene_variant | upstream_gene_variant |
1 | 12,649,630 | C | T | 44 | 2,448 | 0.017974 | 0.017974 | grouped_start_stop | stop_gained |
1 | 12,919,093 | T | C | 36 | 2,448 | 0.014706 | 0.014706 | 5_prime_UTR_variant | 5_prime_UTR_variant |
1 | 12,969,522 | A | G | 1,166 | 2,448 | 0.476307 | 0.476307 | intergenic_variant | intergenic_variant |
1 | 13,074,182 | A | G | 6 | 2,448 | 0.002451 | 0.002451 | missense_variant | missense_variant |
1 | 13,165,538 | C | T | 6 | 2,448 | 0.002451 | 0.002451 | upstream_gene_variant | upstream_gene_variant |
1 | 13,561,134 | T | G | 1,782 | 2,448 | 0.727941 | 0.272059 | downstream_gene_variant | downstream_gene_variant |
1 | 13,623,491 | C | A | 1,276 | 2,448 | 0.521242 | 0.478758 | upstream_gene_variant | upstream_gene_variant |
1 | 13,757,154 | T | A | 1,250 | 2,448 | 0.510621 | 0.489379 | downstream_gene_variant | downstream_gene_variant |
1 | 13,860,457 | A | G | 8 | 2,448 | 0.003268 | 0.003268 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant |
1 | 13,862,232 | A | G | 1,742 | 2,448 | 0.711601 | 0.288399 | grouped_splice_region | splice_polypyrimidine_tract_variant |
1 | 14,146,288 | T | C | 174 | 2,448 | 0.071078 | 0.071078 | intergenic_variant | intergenic_variant |
1 | 14,206,039 | C | A | 10 | 2,448 | 0.004085 | 0.004085 | intron_variant | intron_variant |
1 | 14,216,546 | C | T | 188 | 2,448 | 0.076797 | 0.076797 | 5_prime_UTR_variant | 5_prime_UTR_variant |
1 | 14,343,019 | T | G | 4 | 2,448 | 0.001634 | 0.001634 | synonymous_variant | synonymous_variant |
1 | 14,481,103 | T | C | 1,496 | 2,448 | 0.611111 | 0.388889 | synonymous_variant | synonymous_variant |
1 | 14,487,556 | T | C | 1,124 | 2,448 | 0.45915 | 0.45915 | intron_variant | intron_variant |
1 | 14,507,401 | C | A | 4 | 2,448 | 0.001634 | 0.001634 | 5_prime_UTR_variant | 5_prime_UTR_variant |
1 | 14,727,359 | G | A | 6 | 2,448 | 0.002451 | 0.002451 | grouped_start_stop | start_lost |
1 | 14,910,204 | C | T | 420 | 2,448 | 0.171569 | 0.171569 | grouped_splice_region | splice_polypyrimidine_tract_variant |
1 | 14,913,625 | C | A | 716 | 2,448 | 0.292484 | 0.292484 | 3_prime_UTR_variant | 3_prime_UTR_variant |
1 | 14,913,871 | G | C | 4 | 2,448 | 0.001634 | 0.001634 | 3_prime_UTR_variant | 3_prime_UTR_variant |
1 | 15,020,565 | G | A | 4 | 2,448 | 0.001634 | 0.001634 | synonymous_variant | synonymous_variant |
1 | 15,054,026 | A | G | 1,670 | 2,448 | 0.68219 | 0.31781 | intron_variant | intron_variant |
1 | 15,072,616 | G | C | 20 | 2,448 | 0.00817 | 0.00817 | grouped_start_stop | stop_gained |
1 | 15,198,652 | G | T | 670 | 2,448 | 0.273693 | 0.273693 | grouped_splice_region | splice_region_variant |
1 | 15,216,956 | A | G | 226 | 2,448 | 0.09232 | 0.09232 | grouped_start_stop | start_lost |
1 | 15,260,454 | T | A | 584 | 2,448 | 0.238562 | 0.238562 | downstream_gene_variant | downstream_gene_variant |
1 | 15,262,055 | C | T | 14 | 2,448 | 0.005719 | 0.005719 | upstream_gene_variant | upstream_gene_variant |
1 | 15,271,505 | A | T | 44 | 2,448 | 0.017974 | 0.017974 | intron_variant | intron_variant |
1 | 15,286,428 | C | G | 22 | 2,448 | 0.008987 | 0.008987 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant |
1 | 15,298,368 | T | C | 10 | 2,448 | 0.004085 | 0.004085 | downstream_gene_variant | downstream_gene_variant |
1 | 15,313,641 | C | T | 4 | 2,448 | 0.001634 | 0.001634 | intergenic_variant | intergenic_variant |
1 | 15,478,423 | C | T | 72 | 2,448 | 0.029412 | 0.029412 | synonymous_variant | synonymous_variant |
1 | 15,582,585 | C | T | 656 | 2,448 | 0.267974 | 0.267974 | upstream_gene_variant | upstream_gene_variant |
1 | 15,659,516 | T | G | 510 | 2,448 | 0.208333 | 0.208333 | grouped_splice_region | splice_polypyrimidine_tract_variant |
1 | 15,865,590 | T | C | 4 | 2,448 | 0.001634 | 0.001634 | 3_prime_UTR_variant | 3_prime_UTR_variant |
1 | 15,867,093 | G | A | 68 | 2,448 | 0.027778 | 0.027778 | missense_variant | missense_variant |
1 | 15,867,583 | A | G | 4 | 2,448 | 0.001634 | 0.001634 | missense_variant | missense_variant |
1 | 16,036,467 | G | A | 52 | 2,448 | 0.021242 | 0.021242 | 3_prime_UTR_variant | 3_prime_UTR_variant |
1 | 16,037,271 | T | C | 452 | 2,448 | 0.184641 | 0.184641 | downstream_gene_variant | downstream_gene_variant |
1 | 16,127,432 | C | T | 4 | 2,448 | 0.001634 | 0.001634 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant |
1 | 16,127,474 | G | C | 634 | 2,448 | 0.258987 | 0.258987 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant |
1 | 16,127,620 | G | T | 294 | 2,448 | 0.120098 | 0.120098 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant |
1 | 16,179,140 | A | T | 6 | 2,448 | 0.002451 | 0.002451 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant |
1 | 16,179,287 | C | T | 346 | 2,448 | 0.14134 | 0.14134 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant |
1 | 16,256,052 | G | C | 10 | 2,448 | 0.004085 | 0.004085 | upstream_gene_variant | upstream_gene_variant |
1 | 16,618,499 | G | A | 650 | 2,448 | 0.265523 | 0.265523 | grouped_splice_region | splice_polypyrimidine_tract_variant |
1 | 16,706,110 | A | G | 142 | 2,448 | 0.058007 | 0.058007 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant |
1 | 16,737,966 | A | G | 46 | 2,448 | 0.018791 | 0.018791 | upstream_gene_variant | upstream_gene_variant |
1 | 16,744,391 | G | A | 98 | 2,448 | 0.040033 | 0.040033 | downstream_gene_variant | downstream_gene_variant |
1 | 17,036,817 | G | A | 1,566 | 2,448 | 0.639706 | 0.360294 | 5_prime_UTR_variant | 5_prime_UTR_variant |
1 | 17,210,750 | A | G | 22 | 2,448 | 0.008987 | 0.008987 | 5_prime_UTR_variant | 5_prime_UTR_variant |
1 | 17,430,875 | A | G | 422 | 2,448 | 0.172386 | 0.172386 | missense_variant | missense_variant |
1 | 17,621,302 | C | T | 22 | 2,448 | 0.008987 | 0.008987 | 5_prime_UTR_variant | 5_prime_UTR_variant |
1 | 17,703,600 | G | T | 10 | 2,448 | 0.004085 | 0.004085 | missense_variant | missense_variant |
1 | 17,873,807 | T | G | 6 | 2,448 | 0.002451 | 0.002451 | synonymous_variant | synonymous_variant |
1 | 17,875,730 | T | C | 648 | 2,448 | 0.264706 | 0.264706 | synonymous_variant | synonymous_variant |
1 | 17,901,353 | G | C | 22 | 2,448 | 0.008987 | 0.008987 | synonymous_variant | synonymous_variant |
1 | 17,937,129 | C | A | 106 | 2,448 | 0.043301 | 0.043301 | grouped_start_stop | stop_gained |
1 | 17,942,164 | C | T | 16 | 2,448 | 0.006536 | 0.006536 | 3_prime_UTR_variant | 3_prime_UTR_variant |
1 | 18,044,090 | T | A | 330 | 2,448 | 0.134804 | 0.134804 | 3_prime_UTR_variant | 3_prime_UTR_variant |
1 | 18,084,361 | T | A | 6 | 2,448 | 0.002451 | 0.002451 | intron_variant | intron_variant |
1 | 18,347,001 | A | G | 1,034 | 2,448 | 0.422386 | 0.422386 | intergenic_variant | intergenic_variant |
1 | 18,398,733 | G | T | 856 | 2,448 | 0.349673 | 0.349673 | 5_prime_UTR_variant | 5_prime_UTR_variant |
1 | 18,398,973 | G | A | 32 | 2,448 | 0.013072 | 0.013072 | 5_prime_UTR_variant | 5_prime_UTR_variant |
1 | 18,641,545 | A | C | 322 | 2,448 | 0.131536 | 0.131536 | intron_variant | intron_variant |
1 | 18,646,340 | T | A | 326 | 2,448 | 0.13317 | 0.13317 | grouped_splice_region | splice_region_variant |
1 | 18,786,151 | G | C | 6 | 2,448 | 0.002451 | 0.002451 | 3_prime_UTR_variant | 3_prime_UTR_variant |
1 | 18,830,159 | T | G | 1,386 | 2,448 | 0.566176 | 0.433824 | downstream_gene_variant | downstream_gene_variant |
1 | 19,047,377 | C | G | 676 | 2,448 | 0.276144 | 0.276144 | upstream_gene_variant | upstream_gene_variant |
1 | 19,308,616 | G | T | 474 | 2,448 | 0.193627 | 0.193627 | upstream_gene_variant | upstream_gene_variant |
1 | 19,312,944 | G | T | 4 | 2,448 | 0.001634 | 0.001634 | downstream_gene_variant | downstream_gene_variant |
1 | 19,316,575 | T | C | 4 | 2,448 | 0.001634 | 0.001634 | intergenic_variant | intergenic_variant |
1 | 19,445,917 | C | T | 548 | 2,448 | 0.223856 | 0.223856 | intergenic_variant | intergenic_variant |
1 | 19,640,438 | G | A | 16 | 2,448 | 0.006536 | 0.006536 | grouped_start_stop | stop_gained |
1 | 19,736,708 | C | G | 50 | 2,448 | 0.020425 | 0.020425 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant |
1 | 19,736,712 | G | T | 6 | 2,448 | 0.002451 | 0.002451 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant |
1 | 19,768,742 | G | C | 4 | 2,448 | 0.001634 | 0.001634 | missense_variant | missense_variant |
1 | 19,871,010 | A | G | 22 | 2,448 | 0.008987 | 0.008987 | downstream_gene_variant | downstream_gene_variant |
1 | 19,955,000 | T | A | 566 | 2,448 | 0.231209 | 0.231209 | missense_variant | missense_variant |
1 | 19,955,365 | C | T | 14 | 2,448 | 0.005719 | 0.005719 | missense_variant | missense_variant |
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